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Genome-wide association study of primary dysmenorrhea in the Taiwan Biobank validates associations near the NGF and IL1 gene loci.
Lee, Chien-Chang; Lee, Meng-Tse Gabriel; Huang, I-Hsuan; Tan, Jasmine; McCaw, Zachary R; Su, Ke-Ying; Hsu, Tzu-Chun; Huang, Ruby Y J; Kuo, Po-Hsiu; Chen, Shyr-Chyr.
Affiliation
  • Lee CC; Department of Emergency Medicine, National Taiwan University Hospital, Taipei, Taiwan.
  • Lee MG; School of Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan.
  • Huang IH; Department of Emergency Medicine, National Taiwan University Hospital, Taipei, Taiwan.
  • Tan J; Department of Dermatology, National Taiwan University Hospital, Taipei, Taiwan.
  • McCaw ZR; Department of Emergency Medicine, National Taiwan University Hospital, Taipei, Taiwan.
  • Su KY; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
  • Hsu TC; Department of Emergency Medicine, National Taiwan University Hospital, Taipei, Taiwan.
  • Huang RYJ; Department of Emergency Medicine, National Taiwan University Hospital, Taipei, Taiwan.
  • Kuo PH; School of Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan.
  • Chen SC; Graduate Institute of Oncology, College of Medicine, National Taiwan University, Taipei, Taiwan.
J Hum Genet ; 67(8): 449-458, 2022 Aug.
Article in En | MEDLINE | ID: mdl-35351958
Using the Taiwan Biobank, we aimed to identify traits and genetic variations that could predispose Han Chinese women to primary dysmenorrhea. Cases of primary dysmenorrhea included those who self-reported "frequent dysmenorrhea" in a dysmenorrhea-related Taiwan Biobank questionnaire, and those who have been diagnosed with severe dysmenorrhea by a physician. Controls were those without self-reported dysmenorrhea. Customized Axiom-Taiwan Biobank Array Plates were used to perform whole-genome genotyping, PLINK was used to perform association tests, and HaploReg was used to conduct functional annotations of SNPs and bioinformatic analyses. The GWAS analysis included 1186 cases and 24,020 controls. We identified 53 SNPs that achieved genome-wide significance (P < 5 × 10-8, which clustered in 2 regions. The first SNP cluster was on chromosome 1, and included 24 high LD (R2 > 0.88) variants around the NGF gene (lowest P value of 3.83 × 10-13 for rs2982742). Most SNPs occurred within NGF introns, and were predicted to alter regulatory binding motifs. The second SNP cluster was on chromosome 2, including 7 high LD (R2 > 0.94) variants around the IL1A and IL1B loci (lowest P value of 7.43 × 10-10 for rs11676014) and 22 SNPs that did not reach significance after conditional analysis. Most of these SNPs resided within IL1A and IL1B introns, while 2 SNPs may be in the promoter histone marks or promoter flanking regions of IL1B. To conclude, data from this study suggest that NGF, IL1A, and IL1B may be involved in the pathogenesis of primary dysmenorrhea in the Han Chinese in Taiwan.
Subject(s)

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Nerve Growth Factor / Dysmenorrhea / Interleukin-1alpha / Interleukin-1beta Type of study: Prognostic_studies / Risk_factors_studies Limits: Female / Humans Country/Region as subject: Asia Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: Taiwan Country of publication: United kingdom

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Nerve Growth Factor / Dysmenorrhea / Interleukin-1alpha / Interleukin-1beta Type of study: Prognostic_studies / Risk_factors_studies Limits: Female / Humans Country/Region as subject: Asia Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: Taiwan Country of publication: United kingdom